Key result
TTID gene mutation strongly linked to spheroid body myopathy in affected families.
Observational
Effect estimate: maximum lod score 6.1
A novel mutation in the TTID (myotilin) gene was identified as the cause of spheroid body myopathy.
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Supports TTID screening in affected families; extends myotilinopathy genetics but requires validation in larger cohorts.
Foroud et al. (2005) conducted an observational in Spheroid body myopathy. TTID (MYOT) gene mutation was evaluated on Identification of the mutated gene causing spheroid body myopathy (maximum lod score 6.1). A cytosine-to-thymine mutation in exon 2 of the TTID (MYOT) gene was identified in all clinically affected family members with spheroid body myopathy (maximum lod score 6.1).
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